Related Experiment Video
Updated: Apr 21, 2026

Author Spotlight: Using Point-of-Care Ultrasound for Comprehensive Evaluation of the Abdominal Aorta
Published on: September 8, 2023
Association between Primary Hypercholesterolemia, Including Familial Hypercholesterolemia, and Abdominal Aortic
Kei Nakajima1,2, Airi Sekine1
1Department of Nutritional Science, Food and Nutritional Sciences, Japan Women's University, Bunkyo-ku, Tokyo 112-8681, Japan.
Insights
Primary hypercholesterolemia (PH) and familial hypercholesterolemia (FH) are linked to aortic aneurysms, especially abdominal aortic aneurysms (AAA). This large-scale study highlights the importance of screening for these conditions in the general population.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Epidemiology
Background:
- Primary hypercholesterolemia (PH), encompassing familial hypercholesterolemia (FH), elevates cardiovascular disease risk.
- The relationship between PH, FH, and aortic aneurysms (chest aortic aneurysm [CAA] and abdominal aortic aneurysm [AAA]) is not well-established.
- Investigating these associations in a general population is crucial for understanding disease prevalence and risk.
Purpose of the Study:
- To investigate the associations between primary hypercholesterolemia (PH), familial hypercholesterolemia (FH), and the risk of developing aortic aneurysms (CAA and AAA).
- To determine the prevalence of PH, FH, and aortic aneurysms within a large general population cohort.
- To identify specific types of hypercholesterolemia associated with increased risk of aortic aneurysms.
Main Methods:
- Utilized data from 8,995,522 individuals aged 40-74 years undergoing annual health checkups in Japan.
- Defined PH, definite FH, probable FH, CAA, and AAA using medical insurance claim codes.
- Conducted statistical analyses to assess associations, adjusting for confounders like hypertension, diabetes, and dyslipidemia pharmacotherapies.
Main Results:
- The prevalence of PH (including definite and probable FH) was 0.18% in the study population.
- PH patients showed higher rates of CAA (0.16%) and AAA (0.45%) compared to non-PH individuals.
- PH, non-FH (familial-combined hyperlipidemia), and definite/probable FH were significantly associated with AAA (ORs 1.96-4.25, p <0.001) after adjusting for confounders.
Conclusions:
- Primary hypercholesterolemia (PH) and familial hypercholesterolemia (FH) are significantly associated with an increased risk of aortic aneurysms, particularly AAA.
- These associations were observed even within the general population, suggesting a need for broader screening.
- The findings underscore the importance of managing lipid disorders to mitigate the risk of life-threatening aortic conditions.
Introduction:
Patients with primary hypercholesterolemia (PH), including familial hypercholesterolemia (FH), are at elevated risk for cardiovascular disease. However, the associations between PH, FH, and aortic aneurysm, a life-threatening condition, remain unclear. This study aimed to investigate these associations in a general population using the Japanese National Database.
Methods:
We reviewed the data of 8,995,522 individuals aged 40-74 years who underwent annual health checkups. PH, including heterozygous/homozygous (definite FH) and non-classified FH (probable FH), chest aortic aneurysm (CAA), and abdominal aortic aneurysm (AAA), were determined based on medical insurance claim codes.
Results:
The prevalence of PH, including definite (n = 436) and probable FH (n = 2,857), was 0.18% (n = 16,338) in total. CAA and AAA accounted for 0.16% (n = 26) and 0.45% (n = 73) in PH patients, and 0.05% and 0.09% in non-PH patients, respectively. Among PH, non-FH, including familial-combined hyperlipidemia, and definite/probable FH were significantly associated with AAA even after adjusting for confounders, including pharmacotherapies for hypertension, diabetes, and dyslipidemia [ORs and 95% CIs, 1.96 (1.53-2.53) and 4.25 (2.33-7.44), both p <0.001].
Discussion:
This study explored significant associations between PH, FH, and aortic aneurysms, specifically AAA, all of them were rare in the general population, which was barely disclosed using the data of 9 million people who underwent regular checkup.
Conclusion:
PH and FH were associated with aortic aneurysms, particularly AAA, even in the research of the general population.
Related Concept Videos
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Aneurysm I: Introduction
Coronary Artery Disease I: Introduction
Peripheral Artery Disease I: Introduction
Aneurysm III: Interprofessional Care
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

